spinal muscular atrophy (sma)

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1
Large-Scale Production of Adeno-Associated Viral Vector Serotype-9 Carrying the Human Survival Motor Neuron Gene.
Rashnonejad, Afrooz;Chermahini, Gholamhossein Amini;Li, Shaoyong;Ozkinay, Ferda;Gao, Guangping;
2016 molecular biotechnology DOI: 10.1007/s12033-015-9... 215 views
2
Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines.
Valetdinova, K R;Maretina, M A;Kuranova, M L;Grigor'eva, E V;Minina, Y M;Kizilova, E A;Kiselev, A V;...
2019 Stem cell research DOI: S1873-5061(18)30311-... 211 views
3
Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem Cells.
Zhou, Miaojin;Hu, Zhiqing;Qiu, Liyan;Zhou, Tao;Feng, Mai;Hu, Qian;Zeng, Baitao;Li, Zhuo;Sun, Qianru;...
2018 human gene therapy DOI: 10.1089/hum.2017.255 272 views
4
Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting
Zhang, Xiaoqing;Wang, Bo;Zhang, Lichen;You, Guoling;Palais, Robert A.;Zhou, Luming;Fu, Qihua;
2018 BMC genomics 333 views
5
Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy.
van der Heul, A M B;Wijngaarde, C A;Wadman, R I;Asselman, F;van den Aardweg, M T A;Bartels, B;Cuppen...
2019 journal of neuromuscular diseases DOI: 10.3233/JND-190379 209 views
6
Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases
Butchbach, Matthew E R;Butchbach, Matthew E R;Butchbach, Matthew E R;Butchbach, Matthew E R;
2016 Frontiers in molecular biosciences 293 views
7
Preimplantation Genetic Testing for Monogenic Disease of Spinal Muscular Atrophy by Multiple Displacement Amplification: 11 unaffected livebirths.
Fu, Yu;Shen, Xiaoting;Wu, Haitao;Chen, Dongjia;Zhou, Canquan;
2019 International journal of medical sciences DOI: 10.7150/ijms.32319 242 views
8
Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells.
Pagliarini, Vittoria;Guerra, Marika;Di Rosa, Valentina;Compagnucci, Claudia;Sette, Claudio;
2019 Journal of Neurochemistry DOI: 10.1111/jnc.14935 292 views
9
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1.
Young, Sally Dunaway;Montes, Jacqueline;Salazar, Rachel;Glanzman, Allan M;Pasternak, Amy;Mirek, Eliz...
2020 journal of neuromuscular diseases DOI: 10.3233/JND-190462 242 views
10
Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen.
Wurster, Claudia D;Koch, Jan C;Cordts, Isabell;Dreyhaupt, Jens;Otto, Markus;Uzelac, Zeljko;Witzel, S...
2019 frontiers in neurology DOI: 10.3389/fneur.2019.0... 212 views
11
Neurofilament light chain in serum of adolescent and adult SMA patients under treatment with nusinersen.
Wurster, Claudia D;Steinacker, Petra;Günther, René;Koch, Jan C;Lingor, Paul;Uzelac, Zeljko;Witzel, S...
2020 journal of neurology DOI: 10.1007/s00415-019-0... 159 views
12
Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment.
Wurster, Claudia D;Günther, René;Steinacker, Petra;Dreyhaupt, Jens;Wollinsky, Kurt;Uzelac, Zeljko;Wi...
2019 therapeutic advances in neurological disorders DOI: 10.1177/175628641984... 200 views
13
experiences from treating seven adult 5q spinal muscular atrophy patients with nusinersen
;Elisabeth Jochmann;Robert Steinbach;Thomas Jochmann;Ha-Yeun Chung;Annekathrin Rödiger;Rotraud Neuma...
2020 caliban: french journal of english studies DOI: 10.1177/175628642090... 247 views
14
increasing agrin function antagonizes muscle atrophy and motor impairment in spinal muscular atrophy
;Marina Boido;Elena De Amicis;Valeria Valsecchi;Marco Trevisan;Ugo Ala;Markus A. Ruegg;Stefan Hettwe...
2018 macromolecular bioscience DOI: 10.3389/fncel.2018.0... 231 views
15
gemins: potential therapeutic targets for spinal muscular atrophy?
;Rebecca eBorg;Ruben J Cauchi
2014 Journal of enzyme inhibition and medicinal chemist... DOI: 10.3389/fnins.2014.0... 183 views
16
spinal muscular atrophy and its molecular genetics
;Sabriye Kocaturk Sel;Halil Kasap;Filiz Koc;Ali Irfan Guzel
2012 hawai'i journal of medicine & public health : a jo... 155 views
17
self-locomotion and spatial language and spatial cognition: insights from typical and atypical development
;Ora eOudgenoeg-Paz;James eRivière
2014 accounts of chemical research DOI: 10.3389/fpsyg.2014.0... 165 views
18
neuromuscular junctions as key contributors and therapeutic targets in spinal muscular atrophy
;Marina eBoido;Alessandro eVercelli
2016 Journal of medical systems DOI: 10.3389/fnana.2016.0... 230 views
19
Inhibition of U snRNP assembly by a virus-encoded proteinase
Laura L. Almstead, Peter Sarnow;Laura L. Almstead;Peter Sarnow;
2007 genes & development DOI: 10.1101/gad.1535607 80 views

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molecular biotechnology
ISSN: 1559-0305 307 views

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gene therapy electron microscopy adeno-associated viral vector human embryonic kidney 293 cells survival motor neuron (smn) gene transient transfection Biology (General) Medicine Science neurosciences. biological psychiatry. neuropsychiatry genetics spinal muscular atrophy haplotype analysis multiple displacement amplification preimplantation genetic testing for monogenic disease lbh589 nusinersen therapy smn2 splicing surgery scoliosis